NM_001905.4(CTPS1):c.1547-32A>G
|
rs12144160
|
0.46857
|
NM_001905.4(CTPS1):c.1094+14G>A
|
rs12718433
|
0.40636
|
NM_001905.4(CTPS1):c.1449+14C>G
|
rs35044078
|
0.09978
|
NM_001905.4(CTPS1):c.1006-19_1006-18del
|
rs140062309
|
0.07392
|
NM_001905.4(CTPS1):c.556-16T>G
|
rs116700741
|
0.02074
|
NM_001905.4(CTPS1):c.501A>G (p.Gln167=)
|
rs5030799
|
0.01984
|
NM_001905.4(CTPS1):c.1617A>G (p.Pro539=)
|
rs138555227
|
0.00400
|
NM_001905.4(CTPS1):c.570G>A (p.Gly190=)
|
rs116134285
|
0.00296
|
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala)
|
rs139322260
|
0.00151
|
NM_001905.4(CTPS1):c.1590G>C (p.Leu530=)
|
rs140798858
|
0.00144
|
NM_001905.4(CTPS1):c.1191C>T (p.Gly397=)
|
rs150821317
|
0.00084
|
NM_001905.4(CTPS1):c.312A>G (p.Gly104=)
|
rs150868456
|
0.00078
|
NM_001905.4(CTPS1):c.1281G>A (p.Thr427=)
|
rs145143197
|
0.00049
|
NM_001905.4(CTPS1):c.1411G>A (p.Ala471Thr)
|
rs374862639
|
0.00027
|
NM_001905.4(CTPS1):c.1488C>T (p.Gly496=)
|
rs201824063
|
0.00021
|
NM_001905.4(CTPS1):c.1500T>C (p.Val500=)
|
rs34761170
|
0.00015
|
NM_001905.4(CTPS1):c.1692-1G>C
|
rs145092287
|
0.00015
|
NM_001905.4(CTPS1):c.1252+7G>A
|
rs371135580
|
0.00013
|
NM_001905.4(CTPS1):c.1152A>G (p.Ala384=)
|
rs138406396
|
0.00012
|
NM_001905.4(CTPS1):c.556-16_556-15insG
|
rs572312351
|
0.00012
|
NM_001905.4(CTPS1):c.1649G>A (p.Arg550Gln)
|
rs776186929
|
0.00011
|
NM_001905.4(CTPS1):c.1691+7G>A
|
rs186753161
|
0.00011
|
NM_001905.4(CTPS1):c.337+16C>T
|
rs374103645
|
0.00011
|
NM_001905.4(CTPS1):c.1394-15C>T
|
rs778949972
|
0.00009
|
NM_001905.4(CTPS1):c.1546+10C>T
|
rs371297328
|
0.00009
|
NM_001905.4(CTPS1):c.525T>C (p.Phe175=)
|
rs370799321
|
0.00009
|
NM_001905.4(CTPS1):c.456G>T (p.Gly152=)
|
rs376161790
|
0.00008
|
NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser)
|
rs140029453
|
0.00008
|
NM_001905.4(CTPS1):c.1065C>T (p.His355=)
|
rs771600893
|
0.00006
|
NM_001905.4(CTPS1):c.1417T>C (p.Tyr473His)
|
rs75669611
|
0.00006
|
NM_001905.4(CTPS1):c.1691+6C>T
|
rs765397908
|
0.00006
|
NM_001905.4(CTPS1):c.1449+17G>C
|
rs764406164
|
0.00004
|
NM_001905.4(CTPS1):c.337+14T>A
|
rs752494489
|
0.00004
|
NM_001905.4(CTPS1):c.361A>G (p.Ile121Val)
|
rs200274195
|
0.00004
|
NM_001905.4(CTPS1):c.386C>T (p.Ala129Val)
|
rs143058120
|
0.00004
|
NM_001905.4(CTPS1):c.167-5T>C
|
rs754438957
|
0.00003
|
NM_001905.4(CTPS1):c.1769A>G (p.His590Arg)
|
rs755468825
|
0.00003
|
NM_001905.4(CTPS1):c.242G>A (p.Arg81His)
|
rs376970699
|
0.00003
|
NM_001905.4(CTPS1):c.480T>C (p.Ile160=)
|
rs761028193
|
0.00003
|
NM_001905.4(CTPS1):c.721-6A>T
|
rs754231014
|
0.00003
|
NM_001905.4(CTPS1):c.1040C>T (p.Ser347Leu)
|
rs988433826
|
0.00002
|
NM_001905.4(CTPS1):c.1053C>T (p.Pro351=)
|
rs746923692
|
0.00002
|
NM_001905.4(CTPS1):c.1087A>G (p.Ser363Gly)
|
rs149054758
|
0.00002
|
NM_001905.4(CTPS1):c.1235A>G (p.Asn412Ser)
|
rs928104008
|
0.00002
|
NM_001905.4(CTPS1):c.1269G>A (p.Glu423=)
|
rs780304885
|
0.00002
|
NM_001905.4(CTPS1):c.1294G>A (p.Val432Met)
|
rs373379651
|
0.00002
|
NM_001905.4(CTPS1):c.1692-3C>T
|
rs748205702
|
0.00002
|
NM_001905.4(CTPS1):c.1692G>A (p.Arg564=)
|
rs201074432
|
0.00002
|
NM_001905.4(CTPS1):c.222T>C (p.Tyr74=)
|
rs201994529
|
0.00002
|
NM_001905.4(CTPS1):c.439-6T>G
|
rs369112285
|
0.00002
|
NM_001905.4(CTPS1):c.537C>T (p.His179=)
|
rs765222988
|
0.00002
|
NM_001905.4(CTPS1):c.735C>T (p.His245=)
|
rs776310492
|
0.00002
|
NM_001905.4(CTPS1):c.880C>T (p.Arg294Cys)
|
rs372743741
|
0.00002
|
NM_001905.4(CTPS1):c.1009A>G (p.Ile337Val)
|
rs140093917
|
0.00001
|
NM_001905.4(CTPS1):c.1054G>A (p.Val352Met)
|
rs150289603
|
0.00001
|
NM_001905.4(CTPS1):c.1095-5T>G
|
rs373984935
|
0.00001
|
NM_001905.4(CTPS1):c.1237G>A (p.Val413Met)
|
rs778320711
|
0.00001
|
NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met)
|
rs768930904
|
0.00001
|
NM_001905.4(CTPS1):c.1293C>T (p.Pro431=)
|
rs747981364
|
0.00001
|
NM_001905.4(CTPS1):c.1397A>G (p.Lys466Arg)
|
rs962110557
|
0.00001
|
NM_001905.4(CTPS1):c.1403A>G (p.Tyr468Cys)
|
rs144358815
|
0.00001
|
NM_001905.4(CTPS1):c.1650G>A (p.Arg550=)
|
rs763233454
|
0.00001
|
NM_001905.4(CTPS1):c.1727C>G (p.Pro576Arg)
|
rs149425488
|
0.00001
|
NM_001905.4(CTPS1):c.1734T>C (p.Ser578=)
|
rs768984457
|
0.00001
|
NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys)
|
rs751260098
|
0.00001
|
NM_001905.4(CTPS1):c.241C>T (p.Arg81Cys)
|
rs748131892
|
0.00001
|
NM_001905.4(CTPS1):c.369G>A (p.Glu123=)
|
rs749862542
|
0.00001
|
NM_001905.4(CTPS1):c.451G>A (p.Val151Met)
|
rs372858150
|
0.00001
|
NM_001905.4(CTPS1):c.594G>A (p.Gln198=)
|
rs977961427
|
0.00001
|
NM_001905.4(CTPS1):c.663A>G (p.Pro221=)
|
rs1642617542
|
0.00001
|
NM_001905.4(CTPS1):c.721-20A>C
|
rs986372152
|
0.00001
|
NM_001905.4(CTPS1):c.780A>G (p.Gln260=)
|
rs201842917
|
0.00001
|
NM_001905.4(CTPS1):c.790G>T (p.Asp264Tyr)
|
rs1484961348
|
0.00001
|
NM_001905.4(CTPS1):c.889G>A (p.Glu297Lys)
|
rs746188198
|
0.00001
|
NM_001905.4(CTPS1):c.899C>G (p.Ser300Cys)
|
rs201674363
|
0.00001
|
NM_001905.4(CTPS1):c.924G>A (p.Thr308=)
|
rs201952022
|
0.00001
|
NM_001905.4(CTPS1):c.939C>G (p.Ser313=)
|
rs1003752907
|
0.00001
|
NM_001905.4(CTPS1):c.98A>G (p.His33Arg)
|
rs1288200124
|
0.00001
|
NM_001905.4(CTPS1):c.1005+6G>A
|
rs2148406240
|
|
NM_001905.4(CTPS1):c.1006-19C>T
|
|
|
NM_001905.4(CTPS1):c.1007A>T (p.Tyr336Phe)
|
rs1570970424
|
|
NM_001905.4(CTPS1):c.1019C>T (p.Ala340Val)
|
|
|
NM_001905.4(CTPS1):c.1020G>A (p.Ala340=)
|
|
|
NM_001905.4(CTPS1):c.1041G>T (p.Ser347=)
|
|
|
NM_001905.4(CTPS1):c.1057C>T (p.Arg353Cys)
|
rs968928651
|
|
NM_001905.4(CTPS1):c.1060T>C (p.Tyr354His)
|
|
|
NM_001905.4(CTPS1):c.1094+10G>A
|
|
|
NM_001905.4(CTPS1):c.1094+5G>A
|
|
|
NM_001905.4(CTPS1):c.1094+9A>G
|
|
|
NM_001905.4(CTPS1):c.1095-6G>A
|
|
|
NM_001905.4(CTPS1):c.1098A>C (p.Gly366=)
|
|
|
NM_001905.4(CTPS1):c.1126C>A (p.Arg376=)
|
rs1642919526
|
|
NM_001905.4(CTPS1):c.1132A>G (p.Thr378Ala)
|
|
|
NM_001905.4(CTPS1):c.115A>G (p.Ile39Val)
|
rs2148385706
|
|
NM_001905.4(CTPS1):c.1166G>C (p.Arg389Pro)
|
rs139001308
|
|
NM_001905.4(CTPS1):c.1186T>C (p.Leu396=)
|
|
|
NM_001905.4(CTPS1):c.1190-10del
|
|
|
NM_001905.4(CTPS1):c.1190-15C>T
|
|
|
NM_001905.4(CTPS1):c.1190-16T>C
|
|
|
NM_001905.4(CTPS1):c.1190-18T>A
|
|
|
NM_001905.4(CTPS1):c.1190-18T>C
|
|
|
NM_001905.4(CTPS1):c.1190-6T>C
|
|
|
NM_001905.4(CTPS1):c.1236C>T (p.Asn412=)
|
|
|
NM_001905.4(CTPS1):c.1252+11A>C
|
|
|
NM_001905.4(CTPS1):c.1253A>G (p.Asp418Gly)
|
rs1643025028
|
|
NM_001905.4(CTPS1):c.1268A>G (p.Glu423Gly)
|
|
|
NM_001905.4(CTPS1):c.1274_1275delinsTT (p.Asp425Val)
|
rs1643025482
|
|
NM_001905.4(CTPS1):c.1296+11T>G
|
rs773324318
|
|
NM_001905.4(CTPS1):c.1296+12G>A
|
|
|
NM_001905.4(CTPS1):c.1296+15T>C
|
|
|
NM_001905.4(CTPS1):c.1296+3G>A
|
|
|
NM_001905.4(CTPS1):c.137A>G (p.Asp46Gly)
|
rs757447163
|
|
NM_001905.4(CTPS1):c.1394-14G>A
|
|
|
NM_001905.4(CTPS1):c.1394-6del
|
|
|
NM_001905.4(CTPS1):c.1398A>C (p.Lys466Asn)
|
|
|
NM_001905.4(CTPS1):c.1398A>G (p.Lys466=)
|
rs2148420426
|
|
NM_001905.4(CTPS1):c.1410C>T (p.Asp470=)
|
|
|
NM_001905.4(CTPS1):c.1432C>T (p.His478Tyr)
|
|
|
NM_001905.4(CTPS1):c.1434C>T (p.His478=)
|
|
|
NM_001905.4(CTPS1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_001905.4(CTPS1):c.1449+11C>T
|
|
|
NM_001905.4(CTPS1):c.1449+3G>A
|
|
|
NM_001905.4(CTPS1):c.1450-14T>A
|
|
|
NM_001905.4(CTPS1):c.1450-18T>A
|
rs2148420542
|
|
NM_001905.4(CTPS1):c.1450-4A>G
|
rs2148420558
|
|
NM_001905.4(CTPS1):c.1459G>C (p.Val487Leu)
|
rs1643098135
|
|
NM_001905.4(CTPS1):c.1461C>T (p.Val487=)
|
|
|
NM_001905.4(CTPS1):c.1469A>C (p.Lys490Thr)
|
|
|
NM_001905.4(CTPS1):c.1471T>G (p.Cys491Gly)
|
rs2148420580
|
|
NM_001905.4(CTPS1):c.1473T>C (p.Cys491=)
|
|
|
NM_001905.4(CTPS1):c.1502G>C (p.Gly501Ala)
|
|
|
NM_001905.4(CTPS1):c.1546+11G>A
|
|
|
NM_001905.4(CTPS1):c.1547-15G>C
|
rs1643114232
|
|
NM_001905.4(CTPS1):c.1547A>G (p.Asp516Gly)
|
|
|
NM_001905.4(CTPS1):c.1572G>A (p.Gln524=)
|
rs374888417
|
|
NM_001905.4(CTPS1):c.1604A>G (p.Lys535Arg)
|
|
|
NM_001905.4(CTPS1):c.1610C>T (p.Ser537Phe)
|
|
|
NM_001905.4(CTPS1):c.1622T>C (p.Phe541Ser)
|
rs2148421320
|
|
NM_001905.4(CTPS1):c.162G>A (p.Glu54=)
|
|
|
NM_001905.4(CTPS1):c.1658A>T (p.His553Leu)
|
|
|
NM_001905.4(CTPS1):c.166+15T>G
|
|
|
NM_001905.4(CTPS1):c.166+7dup
|
rs2148385754
|
|
NM_001905.4(CTPS1):c.1668G>A (p.Gln556=)
|
|
|
NM_001905.4(CTPS1):c.167-13C>T
|
|
|
NM_001905.4(CTPS1):c.167-15C>G
|
|
|
NM_001905.4(CTPS1):c.1674C>G (p.Gly558=)
|
|
|
NM_001905.4(CTPS1):c.1684T>C (p.Ser562Pro)
|
|
|
NM_001905.4(CTPS1):c.1695C>T (p.Asp565=)
|
|
|
NM_001905.4(CTPS1):c.1697C>T (p.Thr566Ile)
|
rs1643134667
|
|
NM_001905.4(CTPS1):c.1725C>T (p.Ser575=)
|
rs2148422076
|
|
NM_001905.4(CTPS1):c.1744G>A (p.Glu582Lys)
|
|
|
NM_001905.4(CTPS1):c.1755T>C (p.Phe585=)
|
rs1570987022
|
|
NM_001905.4(CTPS1):c.1757del (p.Pro586fs)
|
|
|
NM_001905.4(CTPS1):c.191G>A (p.Gly64Asp)
|
|
|
NM_001905.4(CTPS1):c.198A>G (p.Glu66=)
|
|
|
NM_001905.4(CTPS1):c.262C>G (p.Leu88Val)
|
|
|
NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys)
|
rs1642413763
|
|
NM_001905.4(CTPS1):c.297C>T (p.Asn99=)
|
rs1553178673
|
|
NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)
|
|
|
NM_001905.4(CTPS1):c.305G>A (p.Arg102Gln)
|
|
|
NM_001905.4(CTPS1):c.309A>G (p.Lys103=)
|
rs773103801
|
|
NM_001905.4(CTPS1):c.332T>C (p.Val111Ala)
|
|
|
NM_001905.4(CTPS1):c.336A>G (p.Gln112=)
|
rs1642414869
|
|
NM_001905.4(CTPS1):c.337+10G>C
|
|
|
NM_001905.4(CTPS1):c.338-16G>A
|
|
|
NM_001905.4(CTPS1):c.342C>T (p.Val114=)
|
|
|
NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly)
|
rs1642483599
|
|
NM_001905.4(CTPS1):c.387G>A (p.Ala129=)
|
|
|
NM_001905.4(CTPS1):c.399A>T (p.Val133=)
|
|
|
NM_001905.4(CTPS1):c.411C>T (p.Gly137=)
|
|
|
NM_001905.4(CTPS1):c.434T>C (p.Ile145Thr)
|
|
|
NM_001905.4(CTPS1):c.438+14C>T
|
|
|
NM_001905.4(CTPS1):c.438+1G>A
|
rs2148392127
|
|
NM_001905.4(CTPS1):c.438+20A>G
|
|
|
NM_001905.4(CTPS1):c.439-15A>C
|
rs1642518522
|
|
NM_001905.4(CTPS1):c.439-17C>A
|
|
|
NM_001905.4(CTPS1):c.450C>T (p.Thr150=)
|
|
|
NM_001905.4(CTPS1):c.453G>C (p.Val151=)
|
|
|
NM_001905.4(CTPS1):c.454G>A (p.Gly152Arg)
|
|
|
NM_001905.4(CTPS1):c.456G>A (p.Gly152=)
|
|
|
NM_001905.4(CTPS1):c.509T>G (p.Val170Gly)
|
|
|
NM_001905.4(CTPS1):c.555+11C>T
|
|
|
NM_001905.4(CTPS1):c.555+12A>G
|
|
|
NM_001905.4(CTPS1):c.555+15G>A
|
|
|
NM_001905.4(CTPS1):c.555+5G>A
|
rs1292013147
|
|
NM_001905.4(CTPS1):c.555G>A (p.Gln185=)
|
|
|
NM_001905.4(CTPS1):c.555_555+997del
|
|
|
NM_001905.4(CTPS1):c.556-14_556-10dup
|
|
|
NM_001905.4(CTPS1):c.556-7G>A
|
|
|
NM_001905.4(CTPS1):c.556-9G>T
|
rs200737909
|
|
NM_001905.4(CTPS1):c.561T>C (p.Ser187=)
|
|
|
NM_001905.4(CTPS1):c.568G>A (p.Gly190Arg)
|
|
|
NM_001905.4(CTPS1):c.584A>C (p.Lys195Thr)
|
rs2148397688
|
|
NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser)
|
rs1642600970
|
|
NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln)
|
rs1433781145
|
|
NM_001905.4(CTPS1):c.609A>G (p.Glu203=)
|
|
|
NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu)
|
rs1558142847
|
|
NM_001905.4(CTPS1):c.640-12C>G
|
|
|
NM_001905.4(CTPS1):c.640-15G>T
|
|
|
NM_001905.4(CTPS1):c.640-5G>A
|
rs1450416670
|
|
NM_001905.4(CTPS1):c.666T>C (p.Leu222=)
|
|
|
NM_001905.4(CTPS1):c.675A>G (p.Ser225=)
|
|
|
NM_001905.4(CTPS1):c.693A>G (p.Ser231=)
|
|
|
NM_001905.4(CTPS1):c.711G>A (p.Glu237=)
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NM_001905.4(CTPS1):c.720+10A>C
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NM_001905.4(CTPS1):c.720+17A>G
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NM_001905.4(CTPS1):c.720+1G>A
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rs1381936067
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NM_001905.4(CTPS1):c.732C>T (p.Val244=)
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NM_001905.4(CTPS1):c.752A>G (p.Tyr251Cys)
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rs2148404103
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NM_001905.4(CTPS1):c.81C>T (p.Leu27=)
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NM_001905.4(CTPS1):c.820A>G (p.Ile274Val)
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NM_001905.4(CTPS1):c.821T>C (p.Ile274Thr)
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NM_001905.4(CTPS1):c.872+12A>G
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NM_001905.4(CTPS1):c.872+4T>A
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NM_001905.4(CTPS1):c.873-3T>C
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NM_001905.4(CTPS1):c.881G>A (p.Arg294His)
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NM_001905.4(CTPS1):c.900T>C (p.Ser300=)
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rs776135557
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NM_001905.4(CTPS1):c.936C>T (p.Asp312=)
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rs1020095716
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NM_001905.4(CTPS1):c.945C>G (p.Ala315=)
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NM_001905.4(CTPS1):c.963G>A (p.Leu321=)
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|
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NM_001905.4(CTPS1):c.988C>A (p.His330Asn)
|
rs1553180295
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NM_001905.4(CTPS1):c.98A>T (p.His33Leu)
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|
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NM_001905.4(CTPS1):c.99T>C (p.His33=)
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